What's new in newborn screening?

Bradford L. Therrell, Colleen Buechner, Michele A. Lloyd-Puryear, Peter C. van Dyck, Marie Y. Mann

Research output: Contribution to journalReview article

3 Scopus citations

Abstract

Newborn screening (NBS) serves as an important preventive public health program to assist families in obtaining early diagnoses, medical interventions and services for newborns affected with rare congenital conditions. Recent advances in screening techniques using tandem mass spectrometry have vastly increased the number of metabolic conditions that can be detected at birth and many NBS programs have expanded their screening panels accordingly, some now screening for more than 50 conditions. Ongoing program expansions and continuing advances in screening technology and medical care means that today, more than ever, clinicians must be fully informed about NBS. We review some of the issues impacting NBS in the USA as food for thought for clinicians faced with fulfilling their expanded role in NBS systems support. This article reviews the current status of NBS using experiences in the USA as an example of how current NBS systems are changing throughout the world. We provide information on recent publications of interest, significant policy and program issues and resources available to assist in coping with NBS advances. For clarification, we will refer to the classical form of NBS (i.e., laboratory analyses from dried blood spots) as newborn dried blood-spot screening (NDBS) and screening for congenital hearing deficiencies in newborns as newborn hearing screening (NHS). The abbreviation 'NBS' Will be used to denote the more comprehensive integrated system that can include both NDBS and NHS. Use of the term 'state programs' refers to programs in the 50 US states and the District of Columbia (i.e., a total of 51 state programs nationally).

Original languageEnglish (US)
Pages (from-to)411-429
Number of pages19
JournalPediatric Health
Volume2
Issue number4
DOIs
StatePublished - Aug 1 2008

Keywords

  • Dried blood spot
  • Genetics
  • Newborn
  • Newborn screening
  • Pediatrics
  • Public health

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pediatrics

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    Therrell, B. L., Buechner, C., Lloyd-Puryear, M. A., van Dyck, P. C., & Mann, M. Y. (2008). What's new in newborn screening? Pediatric Health, 2(4), 411-429. https://doi.org/10.2217/17455111.2.4.411